Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 244 Records) |
| Query Trace: Down syndrome[original query] |
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| Children with Down syndrome: association of Bcl-I polymorphism of nuclear receptor subfamily 3 group C member 1 gene with obesity. Pediatric research 2021 8 92 (1): 216-224. Abo El-Fotoh Wafaa Moustafa M, Bahbah Hebatallah Mohammed Nasser, Elaithy Manal Abd El-Monem, Ahmed Rana Khairy Rashad, Bayomy Noha Rab |
| Understanding etiology of chromosome 21 nondisjunction from gene?×?environment models. Scientific reports 2021 11 11 (1): 22390. Halder Pinku, Pal Upamanyu, Ganguly Agnish, Ghosh Papiya, Ray Anirban, Sarkar Sumantra, Ghosh Suj |
| Complement dysregulation and Alzheimer's disease in Down syndrome. Alzheimer's & dementia : the journal of the Alzheimer's Association 2022 Sep . Veteleanu Aurora, Pape Sarah, Davies Kate, Kodosaki Eleftheria, Hye Abdul, Zelek Wioleta M, Strydom Andre, Morgan B Pa |
| Systemic and Ophthalmic Manifestations in Different Types of Refractive Errors in Patients with Down Syndrome. Medicina (Kaunas, Lithuania) 2022 7 58 (8): . Ljubic Antonela, Trajkovski Vladimir, Stankovic Branislav, Tojtovska Biljana, Langmann Andrea, Dimitrova Galina, Jovanovic Ivana, Tesic Milor |
| Accelerated epigenetic aging in newborns with Down syndrome. Aging cell 2022 6 21 (7): e13652. Xu Keren, Li Shaobo, Muskens Ivo S, Elliott Natalina, Myint Swe Swe, Pandey Priyatama, Hansen Helen M, Morimoto Libby M, Kang Alice Y, Ma Xiaomei, Metayer Catherine, Mueller Beth A, Roberts Irene, Walsh Kyle M, Horvath Steve, Wiemels Joseph L, de Smith Adam |
| Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK. Journal of general internal medicine 2022 4 37 (8): 2009-2015. Baksh R Asaad, Strydom Andre, Pape Sarah E, Chan Li F, Gulliford Martin |
| Maternal Risk Factors Triggering Congenital Heart Defects in Down Syndrome: A Case-Control Study. Pediatric reports 2022 3 14 (1): 99-105. Asim Ambreen, Agarwal Sarita, Dean Deepika Del |
| Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group. Pediatric diabetes 2022 3 23 (4): 457-461. Hewat Thomas I, Laver Thomas W, Houghton Jayne A L, Männistö Jonna M E, Alvi Sabah, Brearey Stephen P, Cody Declan, Dastamani Antonia, De Los Santos La Torre Miguel, Murphy Nuala, Rami-Merhar Birgit, Wefers Birgit, Huopio Hanna, Banerjee Indraneel, Johnson Matthew B, Flanagan Sarah |
| Association of MTHFR 677C?>?T gene polymorphism with neonatal defects: a meta-analysis of 81444 subjects. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2022 3 42 (6): 1811-1822. Li Juan, Feng Danqin, He Shiwei, Yang Hua, Su Zhiying, Ye Huimi |
| Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion. Human cell 2022 Feb . de Castro Carolina Monteiro Leite, Pereira Carolina Oliveto Bastos, Aprigio Joissy, Costa Lima Marcelo A, Ribeiro Márcia G, Amorim Márcia Rodrigu |
| Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children. Tzu chi medical journal 2022 12 34 (4): 456-461. Kaur Amandeep, Kaur Anup |
| Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study. The Lancet. Neurology 2022 12 22 (1): 55-65. Boerwinkle Anna H, Gordon Brian A, Wisch Julie, Flores Shaney, Henson Rachel L, Butt Omar H, McKay Nicole, Chen Charles D, Benzinger Tammie L S, Fagan Anne M, Handen Benjamin L, Christian Bradley T, Head Elizabeth, Mapstone Mark, Rafii Michael S, O'Bryant Sid, Lai Florence, Rosas H Diana, Lee Joseph H, Silverman Wayne, Brickman Adam M, Chhatwal Jasmeer P, Cruchaga Carlos, Perrin Richard J, Xiong Chengjie, Hassenstab Jason, McDade Eric, Bateman Randall J, Ances Beau M, , |
| Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte. Molecular genetics and genomics : MGG 2022 11 298 (1): 293-313. Halder Pinku, Pal Upamanyu, Ganguly Agnish, Ghosh Papiya, Ray Anirban, Sarkar Sumantra, Ghosh Suj |
| Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis. Medicine 2022 1 101 (3): e28293. Ginani Carla Talita Azevedo, Luz Jefferson Romáryo Duarte da, Silva Saulo Victor E, Coppedè Fabio, Almeida Maria das Graç |
| Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: a meta-analysis of case-control studies. Mutation research. Reviews in mutation research 2023 9 108470. Carla Talita Azevedo Ginani, Jefferson Romáryo Duarte da Luz, Kleyton Santos de Medeiros, Ayane Cristine Alves Sarmento, Fabio Coppedè, Maria das Graças Almei |
| Otitis Media in Children with Down Syndrome Is Associated with Shifts in the Nasopharyngeal and Middle Ear Microbiotas. Genetic testing and molecular biomarkers 2023 7 27 (7): 221-228. Christina L Elling, Salina H Goff, Scott D Hirsch, Kaitlyn Tholen, Jennifer M Kofonow, Danielle Curtis, Charles E Robertson, Jeremy D Prager, Patricia J Yoon, Todd M Wine, Kenny H Chan, Melissa A Scholes, Norman R Friedman, Daniel N Frank, Brian W Herrmann, Regie Lyn P Santos-Cort |
| Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm. JAMA network open 2023 2 6 (2): e2254157. Bakhuizen Jette J, Hopman Saskia M J, Bosscha Machteld I, Dommering Charlotte J, van den Heuvel-Eibrink Marry M, Hol Janna A, Kester Lennart A, Koudijs Marco J, Langenberg Karin P S, Loeffen Jan L C, van der Lugt Jasper, Moll Annette C, van Noesel Max M, Smetsers Stephanie E, de Vos-Kerkhof Evelien, Merks Johannes H M, Kuiper Roland P, Jongmans Marjolijn C |
| Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases. La Pediatria medica e chirurgica : Medical and surgical pediatrics 2023 2 45 (1): . Faizi Muhammad, Rochmah Nur, Soetjipto Soetjipto, Endaryanto Anang, Basuki Sukmawati, Hisbiyah Yuni, Kurnia Perwitasari Ra |
| Cytotoxic T-lymphocyte-associated protein 4 +49A/G polymorphism in Down syndrome children with Hashimoto's thyroiditis. Biomolecules and biomedicine 2023 2 . Faizi Muhammad, Rochmah Nur, Hisbiyah Yuni, Perwitasari Rayi Kurnia, Putri Qurrota Ayuni Novia, Basuki Sukmawati, Endaryanto Anang, Soetjipto Soetjip |
| Germline BRCA2 Pathogenic Variant in Primary Breast Cancer of a Down Syndrome Individual. The American journal of case reports 2023 12 24 e942208. Tsuyoshi Shinohara, Takuo Asoda, Yuta Nakano, Hiroyuki Yamada, Yoshiro Fujimo |
| Heavy metals and genetic variations in folate metabolism pathway: A gene-environment interaction. Indian journal of public health 2023 11 67 (3): 477-479. Amandeep Kaur, Mohan Jairath, Anupam Ka |
| Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 10 . Priyanka Gorijala, M Muaaz Aslam, Lam-Ha T Dang, L Xicota, Maria V Fernandez, Yun Ju Sung, Kang-Hsien Fan, Eleanor Feingold, Ezequiel I Surace, Jasmeer P Chhatwal, Christy L Hom, , , Sigan L Hartley, Jason Hassenstab, Richard J Perrin, Mark Mapstone, Shahid H Zaman, Beau M Ances, M Ilyas Kamboh, Joseph H Lee, Carlos Crucha |
| Transmembrane and coiled-coil 2 associates with Alzheimer's disease pathology in the human brain. Brain pathology (Zurich, Switzerland) 2024 7 e13290. Paul C R Hopkins, Claire Troakes, Andrew King, Guy Te |
| Associations of Microbleeds and Their Topography With Imaging and CSF Biomarkers of Alzheimer Pathology in Individuals With Down Syndrome. Neurology 2024 7 103 (4): e209676. Sara E Zsadanyi, Alejandra O Morcillo-Nieto, Mateus R Aranha, Irina Aragón, José E Arriola-Infante, Lídia Vaqué-Alcázar, Victor Montal, Jordi Pegueroles, Javier Arranz, Íñigo Rodríguez-Baz, Lucia M Blesa, Laura Videla, Isabel Barroeta, Laura Del Hoyo Soriano, Bessy Benejam, Susana Fernández, Aida S Hernandez, Nuria Bargallo, Sofía González-Ortiz, Sandra Giménez, Daniel Alcolea, Olivia Belbin, Alberto Lleó, Juan Fortea, Maria Carmona-Iragui, Alexandre Bejan |
| Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile. Medicina (Kaunas, Lithuania) 2024 7 60 (7): . María Clara Arteaga-Jacobo, Ángel Roco-Videla, Claudio Villota Arcos, Patricio González-Hormazábal, Víctor Gonzalo-Castro, María Virginia Pérez-Flor |
| MTHFR 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico. Genetic testing and molecular biomarkers 2024 5 . Yaneris Maibeth Romero-Bolaño, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Idalid Cuero-Quezada, Jennifer Santana-Hernández, Christian Peña-Padilla, Alejandro Brukman-Jiménez, Mireya Orozco-Vela, Natalia Navia-Espinoza, Jorge Román Corona-Rive |
| Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study. International journal of reproductive biomedicine 2024 4 22 (2): 127-138. Neda Farajnezhad, Pegah Ghandil, Maryam Tahmasebi-Birgani, Javad Mohammadi-A |
| The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndrome. EBioMedicine 2024 11 110 105433. Laura Xicota, Lam-Ha T Dang, Alice Lee, Sharon Krinsky-McHale, Deborah Pang, Lisa Melilli, Sid O'Bryant, Rachel L Henson, Charles Laymon, Florence Lai, H Diana Rosas, Beau Ances, Ira Lott, Christy Hom, Bradley Christian, Sigan Hartley, Shahid Zaman, Elizabeth Head, Mark Mapstone, Zhezhen Jin, Wayne Silverman, Nicole Schupf, Benjamin Handen, Joseph H Lee, |
| The Amyloid Cascade Hypothesis: A Conclusion in Search of Support. The American journal of pathology 2024 11 . Rudy J Castellani, Pouya Jamshidi, Germán Plascencia-Villa, George Per |
| First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024 1 . Manal Elidrissi Errahhali, Mounia Elidrissi Errahhali, Sara Ramdani, Saida Lhousni, Noufissa Benajiba, Maria Rkain, Abdeladim Babakhouya, Aziza Elouali, Ayad Ghanam, Rim Amrani, Sahar Messaoudi, Anass Ayyad, Bouchra Oneib, Ahmed Mimouni, Hanane Saadi, Sanae Allaoui, Meryem Ouarzane, Agnès Guichet, Majida Charif, Redouane Boulouiz, Mohammed Bellao |
- Page last reviewed:Feb 1, 2024
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